Cerebral Palsy
Gene: EZH2
EZH2 (enhancer of zeste 2 polycomb repressive complex 2 subunit)
EnsemblGeneIds (GRCh38): ENSG00000106462
EnsemblGeneIds (GRCh37): ENSG00000106462
OMIM: 601573, Gene2Phenotype
EZH2 is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000106462
EnsemblGeneIds (GRCh37): ENSG00000106462
OMIM: 601573, Gene2Phenotype
EZH2 is in 10 panels
1 review
Clare van Eyk (University of Adelaide)
1 individual reported with mono-allelic LP variant (frameshift deletion) in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied.
Sources: LiteratureCreated: 27 May 2024, 5:32 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Weaver syndrome, MIM#277590
Publications
- PMID: 38693247
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Phenotypes
-
- Weaver syndrome, MIM#277590
- OMIM
- 601573
- Clinvar variants
- Variants in EZH2
- Penetrance
- None
- Publications
-
- PMID: 38693247
- Panels with this gene
History Filter Activity
30 May 2024, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ezh2 has been classified as Red List (Low Evidence).
30 May 2024, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ezh2 has been classified as Red List (Low Evidence).
27 May 2024, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Clare van Eyk (University of Adelaide)gene: EZH2 was added gene: EZH2 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: EZH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: EZH2 were set to PMID: 38693247 Phenotypes for gene: EZH2 were set to Weaver syndrome, MIM#277590 Review for gene: EZH2 was set to RED